A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv971293



Internal ID18606513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30341762..30360177hg38UCSC Ensembl
Innerchr8:30199278..30217693hg19UCSC Ensembl
Innerchr8:30318820..30337235hg18UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg3818416
hg1918416
hg1818416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2498572, nssv2498574, nssv2498577, nssv2498575, nssv2498568, nssv2498569, nssv2498571, nssv2498576, nssv2498573, nssv2498570
SamplesHGDP01284, HGDP00665, HGDP00998, HGDP00521, HGDP00778, HGDP01307, HGDP00542, HGDP01029, HGDP00456, HGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Comments
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nsv971293
Frequency
Sample Size10
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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